A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.

PubWeight™: 0.92‹?›

🔗 View Article (PMID 18336587)

Published in Clin Genet on March 11, 2008

Authors

J M Milunsky, T A Maher, G Zhao, X-L Huang, Z Wang, Y Zou

Articles by these authors

The sequence of the human genome. Science (2001) 101.55

The Biomolecular Interaction Network Database and related tools 2005 update. Nucleic Acids Res (2005) 12.94

Pulmonary expression of interleukin-13 causes inflammation, mucus hypersecretion, subepithelial fibrosis, physiologic abnormalities, and eotaxin production. J Clin Invest (1999) 8.38

Cereal genome evolution. Grasses, line up and form a circle. Curr Biol (1995) 8.33

Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor. Cell (2001) 8.09

Effect of radiotherapy after mastectomy and axillary surgery on 10-year recurrence and 20-year breast cancer mortality: meta-analysis of individual patient data for 8135 women in 22 randomised trials. Lancet (2014) 8.04

Genome of the bacterium Streptococcus pneumoniae strain R6. J Bacteriol (2001) 7.97

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature (1998) 7.26

The Y-family of DNA polymerases. Mol Cell (2001) 6.49

HER-2/neu induces p53 ubiquitination via Akt-mediated MDM2 phosphorylation. Nat Cell Biol (2001) 5.82

Genetic diversity and disease control in rice. Nature (2000) 5.34

An internal control for routine diagnostic PCR: design, properties, and effect on clinical performance. J Clin Microbiol (1998) 4.58

Inducible targeting of IL-13 to the adult lung causes matrix metalloproteinase- and cathepsin-dependent emphysema. J Clin Invest (2000) 4.16

Cutting edge: a role for B lymphocyte stimulator in systemic lupus erythematosus. J Immunol (2001) 3.87

Cardiac hypertrophy is not a required compensatory response to short-term pressure overload. Circulation (2000) 3.82

Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet (2002) 3.67

Organ-tissue mass measurement allows modeling of REE and metabolically active tissue mass. Am J Physiol (1998) 3.65

Polyunsaturated fatty acids in the food chain in the United States. Am J Clin Nutr (2000) 3.34

Effects of the National Cholesterol Education Program's Step I and Step II dietary intervention programs on cardiovascular disease risk factors: a meta-analysis. Am J Clin Nutr (1999) 3.30

Safety and immunogenicity trial in adult volunteers of a human papillomavirus 16 L1 virus-like particle vaccine. J Natl Cancer Inst (2001) 3.28

Regulation of imprinted X-chromosome inactivation in mice by Tsix. Development (2001) 3.12

Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06

China's forest policy for the 21st century. Science (2000) 3.04

Tumoricidal activity of a novel anti-human DR5 monoclonal antibody without hepatocyte cytotoxicity. Nat Med (2001) 2.87

Phenobarbital compared with phenytoin for the treatment of neonatal seizures. N Engl J Med (1999) 2.84

HMGB1-induced autophagy promotes chemotherapy resistance in leukemia cells. Leukemia (2010) 2.83

Rho GTPase function in tumorigenesis. Biochim Biophys Acta (2009) 2.81

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet (2001) 2.75

Total-body skeletal muscle mass: development and cross-validation of anthropometric prediction models. Am J Clin Nutr (2000) 2.71

Localization of a domain on the paramyxovirus attachment protein required for the promotion of cellular fusion by its homologous fusion protein spike. Virology (1995) 2.67

Telomere position effect in human cells. Science (2001) 2.61

Different forms of TFIIH for transcription and DNA repair: holo-TFIIH and a nucleotide excision repairosome. Cell (1995) 2.58

The retinoblastoma gene product protects E2F-1 from degradation by the ubiquitin-proteasome pathway. Genes Dev (1996) 2.58

Unique TATA-binding protein-containing complexes and cofactors involved in transcription by RNA polymerases II and III. EMBO J (1993) 2.56

Hormonal changes in the grains of rice subjected to water stress during grain filling. Plant Physiol (2001) 2.52

Autophagy and chemotherapy resistance: a promising therapeutic target for cancer treatment. Cell Death Dis (2013) 2.52

Validation of a new procedure to determine plasma fatty acid concentration and isotopic enrichment. J Lipid Res (1999) 2.50

Diabetes is related to cerebral infarction but not to AD pathology in older persons. Neurology (2006) 2.48

p53 modulation of TFIIH-associated nucleotide excision repair activity. Nat Genet (1995) 2.47

Oxidative stress activates extracellular signal-regulated kinases through Src and Ras in cultured cardiac myocytes of neonatal rats. J Clin Invest (1997) 2.44

Protection against Fas-dependent Th1-mediated apoptosis by antigen receptor engagement in B cells. Nature (1995) 2.43

Ionic remodeling underlying action potential changes in a canine model of atrial fibrillation. Circ Res (1997) 2.38

Fire and flood management of coastal swamp enabled first rice paddy cultivation in east China. Nature (2007) 2.36

Epidemiological link between exposure to poultry and all influenza A(H7N9) confirmed cases in Huzhou city, China, March to May 2013. Euro Surveill (2013) 2.34

Shedding of syndecan-1 and -4 ectodomains is regulated by multiple signaling pathways and mediated by a TIMP-3-sensitive metalloproteinase. J Cell Biol (2000) 2.33

Proximal sequence element-binding transcription factor (PTF) is a multisubunit complex required for transcription of both RNA polymerase II- and RNA polymerase III-dependent small nuclear RNA genes. Mol Cell Biol (1995) 2.33

Cloning, expression and chromosome locations of the human DNMT3 gene family. Gene (1999) 2.33

Oxytocin is required for nursing but is not essential for parturition or reproductive behavior. Proc Natl Acad Sci U S A (1996) 2.31

Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation. Genes Dev (1999) 2.31

Regional specialization in human nuclei: visualization of discrete sites of transcription by RNA polymerase III. EMBO J (1999) 2.28

Telomerase and cancer. Hum Mol Genet (2001) 2.28

Effects of angiotensin-converting enzyme inhibition on the development of the atrial fibrillation substrate in dogs with ventricular tachypacing-induced congestive heart failure. Circulation (2001) 2.27

Error-free and error-prone lesion bypass by human DNA polymerase kappa in vitro. Nucleic Acids Res (2000) 2.25

Activator-dependent transcription from chromatin in vitro involving targeted histone acetylation by p300. Mol Cell (2000) 2.25

Ginsenoside-Rd improves outcome of acute ischaemic stroke - a randomized, double-blind, placebo-controlled, multicenter trial. Eur J Neurol (2012) 2.18

Trends in obesity and abdominal obesity among adults in the United States from 1999-2008. Int J Obes (Lond) (2010) 2.16

Allogeneic bone marrow transplantation with co-stimulatory blockade induces macrochimerism and tolerance without cytoreductive host treatment. Nat Med (2000) 2.16

Eukaryotic DNA polymerases: proposal for a revised nomenclature. J Biol Chem (2001) 2.15

Dual-energy X-ray absorptiometry body composition model: review of physical concepts. Am J Physiol (1996) 2.15

Binding of DCC by netrin-1 to mediate axon guidance independent of adenosine A2B receptor activation. Science (2001) 2.14

Combinatorial signaling in the specification of unique cell fates. Cell (2000) 2.13

Specificity of DNA lesion bypass by the yeast DNA polymerase eta. J Biol Chem (2000) 2.12

Acquisition of sensitivity of stress-activated protein kinases to the p38 inhibitor, SB 203580, by alteration of one or more amino acids within the ATP binding pocket. J Biol Chem (1998) 2.12

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11

Evolution of HIV-1 coreceptor usage through interactions with distinct CCR5 and CXCR4 domains. Proc Natl Acad Sci U S A (1997) 2.11

The human REV1 gene codes for a DNA template-dependent dCMP transferase. Nucleic Acids Res (1999) 2.10

Expression of chemokine receptors by subsets of neurons in the central nervous system. J Immunol (1997) 2.10

A genomic-systems biology map for cardiovascular function. Science (2001) 2.09

Urokinase receptors promote beta1 integrin function through interactions with integrin alpha3beta1. Mol Biol Cell (2001) 2.09

Preferential incorporation of G opposite template T by the low-fidelity human DNA polymerase iota. Mol Cell Biol (2000) 2.08

Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex. Am J Physiol Renal Physiol (2001) 2.08

Error-prone lesion bypass by human DNA polymerase eta. Nucleic Acids Res (2000) 2.07

Polypoid lesions of the gallbladder: diagnosis and indications for surgery. Br J Surg (1992) 2.04

Identity of a novel delayed rectifier current from human heart with a cloned K+ channel current. Circ Res (1993) 2.02

Physical evidence for distinct mechanisms of translational control by upstream open reading frames. EMBO J (2001) 2.02

Reducing premature death and renal failure in Australian aboriginals. A community-based cardiovascular and renal protective program. Med J Aust (2000) 2.01

A novel human hepatic organic anion transporting polypeptide (OATP2). Identification of a liver-specific human organic anion transporting polypeptide and identification of rat and human hydroxymethylglutaryl-CoA reductase inhibitor transporters. J Biol Chem (1999) 2.01

Mutations in the Newcastle disease virus hemagglutinin-neuraminidase protein that interfere with its ability to interact with the homologous F protein in the promotion of fusion. Virology (1999) 2.01

Molecular characterization of the melanin-concentrating-hormone receptor. Nature (1999) 2.00

Mesenchymal stem cell as salvage treatment for refractory chronic GVHD. Bone Marrow Transplant (2010) 2.00

Phosphorylation and agonist-specific intracellular trafficking of an epitope-tagged mu-opioid receptor expressed in HEK 293 cells. J Neurochem (1995) 1.93

Slow- and tight-binding inhibitors of the 85-kDa human phospholipase A2. Biochemistry (1993) 1.93

Induction of apoptosis in U937 human leukemia cells by suberoylanilide hydroxamic acid (SAHA) proceeds through pathways that are regulated by Bcl-2/Bcl-XL, c-Jun, and p21CIP1, but independent of p53. Oncogene (1999) 1.91

Echocardiographic destruction of albumin microbubbles directs gene delivery to the myocardium. Circulation (2000) 1.91

Increased AKT activity contributes to prostate cancer progression by dramatically accelerating prostate tumor growth and diminishing p27Kip1 expression. J Biol Chem (2000) 1.91

Mutations in LIKE HETEROCHROMATIN PROTEIN 1 affect flowering time and plant architecture in Arabidopsis. Development (2001) 1.90

Glucagon-like peptide 1 has a physiological role in the control of postprandial glucose in humans: studies with the antagonist exendin 9-39. Diabetes (1999) 1.90

Field test of quantum key distribution in the Tokyo QKD Network. Opt Express (2011) 1.89

The fungal mitochondrial genome project: evolution of fungal mitochondrial genomes and their gene expression. Curr Genet (1997) 1.89

GIPC, a PDZ domain containing protein, interacts specifically with the C terminus of RGS-GAIP. Proc Natl Acad Sci U S A (1998) 1.88

Explanations for the clinical and microscopic localization of lesions in pemphigus foliaceus and vulgaris. J Clin Invest (1999) 1.87

Pim kinase-dependent inhibition of c-Myc degradation. Oncogene (2008) 1.85

Effects of experimental heart failure on atrial cellular and ionic electrophysiology. Circulation (2000) 1.83

FosB, a cysteine-dependent fosfomycin resistance protein under the control of sigma(W), an extracytoplasmic-function sigma factor in Bacillus subtilis. J Bacteriol (2001) 1.83

Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann Neurol (2000) 1.82

Cigarette smoking among medical college students in Wuhan, People's Republic of China. Prev Med (1999) 1.81

A new twist in trypanosome RNA metabolism: cis-splicing of pre-mRNA. RNA (2000) 1.79

Alu repeats: a source for the genesis of primate microsatellites. Genomics (1995) 1.79

Quantitative and qualitative analyses of serum antibodies elicited in adults by Haemophilus influenzae type b and pneumococcus type 6A capsular polysaccharide-tetanus toxoid conjugates. Infect Immun (1986) 1.79